National Human Genome Research Institute (NHGRI)

Each year, around two million pregnancies in the U.S. receive non-invasive prenatal testing, but a few years into the use of these tests, clinicians started to see unexpected results. In some of these cases, the atypical results can be explained by benign tumors, autoimmune diseases, or blood abnormalities in the pregnant individual. In rare cases, the person has cancer. A new Scientific American story highlights NIH intramural investigator Dr. Diana Bianchi and her research group called Incidental Detection of Maternal Neoplasia Through Non-invasive Cell-Free DNA Analysis (IDENTIFY): https://lnkd.in/eTrXcCA5 The study involves a series of follow-up medical tests, including a MRI scan of the whole body. The researchers also surveyed the participants to understand their experiences receiving the prenatal test results and how they made the decision to be screened for cancer. You can also read a recent NHGRI article on Dr. Bianchi’s work here: https://lnkd.in/es7ANKzv

Did you know that RNA can fold into different shapes? There are many different types of RNA, including Transfer RNAs (or tRNAs for short), that fold into different shapes to help them function and be stable! tRNAs are folded into a distinct L-shape that allows them carry out their key role in protein synthesis. Learn more about tRNA and its shape by creating your own paper model of it! Check out our instructions and printable paper for folding: https://lnkd.in/ecEhs3jh

Codominance refers to a type of inheritance where two versions of the same gene are expressed separately to yield different traits in an individual. Instead of one trait being dominant over the other, both traits appear, such as in a flower that has more than one pigment color! Learn more: https://lnkd.in/eHTXKJvF 

Scientists use reference genomes as a guide to study humans and find genomic variants in the genome! A reference human genome sequence is an established, high-quality and well-accepted sequence of a human genome. This reference can give comprehensive views of the differences in people’s DNA! Learn more in our human genome variation fact sheet: https://lnkd.in/eJK6uAfK 

Scientists in the Telomere-to-Telomere (#T2T) consortium published the first complete, gapless human genome sequence. This sequence can lead to a better understanding of our genomic variations and provide insight for missing heritability and human disease. With this completed sequence, #T2T researchers discovered more than 2 million additional variants in the human genome! Future studies will be crucial for explaining how these variants affect our health. Researchers used new methods of DNA sequencing and computational analysis to complete the last 8% of the human genome that was incredibly complex and had repetitive stretches of human DNA! Learn more about this incredible effort: http://genome.gov/T2T

Transfer RNAs (called tRNAs for short) are small RNA molecules that play an important role in protein synthesis! Each tRNA corresponds to one of the 20 possible protein building blocks in humans called amino acids. As the ribosome reads each codon along an mRNA, the tRNA bring the correct amino acid, which is then added to the growing protein molecule!   Many types of RNA, including tRNAs, fold into specific shapes that help them function and keep them stable. Complementary sequences at different positions along the length of an RNA fold the molecule into loops and other complex structures.   tRNAs are folded into a distinct L-shape that helps them carry out their function. One end of the tRNA has a specific sequence to match a codon on the mRNA, while the other end of the tRNA has a site to carry the amino acid that will be added to the new protein. Learn more in our RNA fact sheet! https://lnkd.in/eS-8AKPh

How do genomic variants affect our health? Genomic variants influence the risk for specific diseases. In some cases, inherited diseases can be traced to variants in a single gene. An example of this is cystic fibrosis, a disease caused by variants (or mutations) in the CFTR gene. Diseases that result from the risk conferred by several genomic variants, typically in conjunction with environmental factors, are called complex or polygenic diseases. An example of one of these is coronary artery disease. People with this disease are believed to often have 60+ of risk-conferring variants that are spread across the genome. Learn more about genomic variants and their influence on human health in our fact sheet! https://lnkd.in/eGUyx4xX

Researchers are still trying to understand what every gene in the human genome does on all levels. NHGRI’s MorPhiC program aims to address this problem by creating a resource of molecular and cellular phenotypes of null alleles of every human gene. Null alleles are versions of a gene that produce no functional RNA or protein. Null alleles are useful to infer the function of a gene by producing a strong consistent phenotype. In a new paper, the MorPhiC consortium outlines their strategic vision and discusses their methods and how their data will integrate with data from other consortiums.  The group hopes that by phenotypically characterizing null alleles of every human gene, they will provide a resource useful for understanding gene function broadly. Read the paper, published in Nature: https://lnkd.in/eGZAnZ47 Learn more about the MorPhiC program: https://lnkd.in/eUk2DzwC  

This photograph is of me at the midpoint of the Human Genome Project, as my research group was working feverishly to build a physical map of human chromosome 7. The stress of genomic advances had not yet turned my hair grey… that would come later.  For making physical maps of human chromosomes (like that shown in the photograph) during the Human Genome Project, we used many three-letter acronyms for our work: DNA clones called YACs, DNA landmarks called STSs, and lots of PCR to figure out which YACs contain which STSs. It was tedious but gratifying work! 

A common misconception about genomics and genetics is that the genome determines everything in biology. But biology is not about DNA alone! Most phenotypes, or traits, are a result of complex interactions that involve the genome in addition to social and environmental influences.    Environmental factors (such as where we live and work, our diet and exercise, our social context, and life experiences – positive and negative) can influence a person’s traits, including the risk of disease.    These non-genomic factors need to be taken into consideration when performing genetics and genomics research. An important priority is to establish how best to measure, integrate, and analyze data about environmental and social factors that influence health and disease. I encourage you to learn more in our talking glossary of genomic and genetic terms! https://lnkd.in/eMDvk6gJ